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Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series
(Medwave Estudios Limitada, 2026-01-14)
Elius Paz-Cruz
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Patricia Guevara-Ramirez
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Arianne Llamos Paneque
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Emily Onofre
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Christian Rivas Iglesias
INTRODUCTION Neurofibromatosis type 1 (NF1) is a multisystemic genetic disorder caused by pathogenic variants in the NF1 gene, characterized by variable clinical manifestations such as pigmentary abnormalities, neurofibromas, skeletal dysplasia, and tumor predisposition. However, genotype-phenotype correlations remain insufficiently explored, particularly in underrepresented populations. METHODS Three unrelated Ecuadorian pediatric patients with a presumptive diagnosis of NF1 underwent detailed clinical evaluation, next-generation sequencing (NGS), using the TruSight Cancer panel, and ancestry analysis based on 46 ancestry-informative insertion-deletion (InDel) markers. Variants were classified according to ACMG/AMP guidelines using the Franklin and Variant Interpreter platforms, which incorporate in silico prediction tools to assess variant pathogenicity. RESULTS Three distinct pathogenic NF1 variants were identified: one nonsense (p.Arg1534Ter) and two missense (p.Gln20His, p.Asp1644Asn). Clinical findings included early-onset orbital plexiform neurofibroma, multiple café-au-lait macules, axillary/inguinal freckling, radial bone dysplasia, cutaneous neurofibromas, and prepubertal gynecomastia. All patients exhibited predominantly Native American ancestry. In silico analyses predicted a pathogenic classification of all variants. Early pigmentary signs, present in all cases, served as key diagnostic indicators. CONCLUSIONS This case series expands the mutational and phenotypic spectrum of NF1 in a pediatric Ecuadorian cohort. Findings underscore the diagnostic value of early pigmentary signs and highlight less commonly reported manifestations such as radial bone dysplasia and prepubertal gynecomastia. Integrating molecular diagnostics with early clinical evaluation may enable earlier and more precise diagnosis, guiding personalized management strategies. Further studies should investigate genotype-phenotype correlations and the influence of ancestry on NF1 expression.
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Evaluación crítica de la Guía de Práctica Clínica para malaria de la OMS utilizando el instrumento AGREE II
(Ciespal, 2024-03-27)
Claudia Reytor-González
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Daniel Simancas-Racines
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Andrés Viteri-García
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Juan Marco Parise-Vasco
Objetivo: Evaluar críticamente la calidad metodológica de la Guía de Práctica Clínica para malaria de la Organización Mundial de la Salud. Metodología: Tres revisores de forma independiente utilizaron el instrumento AGREE II para evaluar la calidad metodológica de la Guía de Práctica Clínica para malaria. Las calificaciones fueron recogidas y analizadas en una matriz de EXCEL. Se utilizó el coeficiente de concordancia de Fleiss Kappa para determinar la medida de acuerdo entre los evaluadores. Resultados: La Guía de Práctica Clínica (GPC) destacó en claridad, objetivos, y participación de los implicados, pero identificó áreas de mejora en rigor de elaboración y aplicabilidad. Con puntuaciones altas en la mayoría de los dominios y una buena gestión de la independencia editorial, se recomienda su uso a pesar de los desafíos en implementación práctica. Conclusiones: La evaluación AGREE II de la Guía de la OMS para malaria 2022 destaca su calidad y claridad, pero señala áreas de mejora en metodología y aplicabilidad. Subraya la necesidad de adaptación local y colaboración para actualizar continuamente las recomendaciones.
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Endometriosis as a Systemic and Complex Disease: Toward Phenotype-Based Classification and Personalized Therapy
(MDPI AG, 2026-01-16)
Daniel Simancas-Racines
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Emilia Jiménez Flores
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Martha Montalvan
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Raquel Horowitz
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Valeria Araujo
Endometriosis is traditionally conceptualized as a pelvic lesion–centered disease; however, mounting evidence indicates it is a chronic, systemic, and multifactorial inflammatory disorder. This review examines the molecular dialog between ectopic endometrial tissue, the immune system, and peripheral organs, highlighting mechanisms that underlie disease chronicity, symptom variability, and therapeutic resistance. Ectopic endometrium exhibits distinct transcriptomic and epigenetic signatures, disrupted hormonal signaling, and a pro-inflammatory microenvironment characterized by inflammatory mediators, prostaglandins, and matrix metalloproteinases. Immune-endometrial crosstalk fosters immune evasion through altered cytokine profiles, extracellular vesicles, immune checkpoint molecules, and immunomodulatory microRNAs, enabling lesion persistence. Beyond the pelvis, systemic low-grade inflammation, circulating cytokines, and microRNAs reflect a molecular spillover that contributes to chronic pain, fatigue, hypothalamic–pituitary–adrenal axis dysregulation, and emerging gut–endometrium interactions. Furthermore, circulating biomarkers—including microRNAs, lncRNAs, extracellular vesicles, and proteomic signatures—offer potential for early diagnosis, patient stratification, and monitoring of therapeutic responses. Conventional hormonal therapies demonstrate limited efficacy, whereas novel molecular targets and delivery systems, including angiogenesis inhibitors, immune modulators, epigenetic regulators, and nanotherapeutics, show promise for precision intervention. A systems medicine framework, integrating multi-omics analyses and network-based approaches, supports reconceptualizing endometriosis as a systemic inflammatory condition with gynecologic manifestations. This perspective emphasizes the need for interdisciplinary collaboration to advance diagnostics, therapeutics, and individualized patient care, ultimately moving beyond a lesion-centered paradigm toward a molecularly informed, holistic understanding of endometriosis.
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Heavy Metal-Contaminated Soils and Gastric Cancer Risk: Molecular Insights and the Relevance of a One Health Perspective
(MDPI AG, 2025-11-27)
Claudia Reytor-González
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LEYVA RICARDO, SONIA EMILIA
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Yasniel Sánchez Suárez
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Vianey Ariadna Burboa Charis
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Emilia Jiménez-Flores
Heavy metal contamination in agricultural soils has emerged as a critical environmental and public health issue associated with increased gastric cancer incidence worldwide. Among the most concerning pollutants are cadmium, arsenic, and lead, which persist in the environment and enter the human body primarily through the soil–plant–food chain. This review integrates environmental, molecular, and epidemiological evidence to explain how these metals alter gastric mucosal biology and promote carcinogenesis. Mechanistically, cadmium, arsenic, and lead trigger oxidative stress, mitochondrial dysfunction, DNA damage, and epigenetic reprogramming, resulting in genomic instability, resistance to programmed cell death, and the transformation of epithelial cells into invasive phenotypes. These molecular disruptions interact with Helicobacter pylori infection, microbial imbalance, chronic inflammation, and hypoxia-driven remodeling of the gastric stroma, all of which enhance angiogenesis and tumor progression. Advanced experimental platforms, such as gastric organoids, immune co-cultures, and humanized animal models, are improving the understanding of these complex interactions. Adopting a One Health perspective reveals the continuity between environmental contamination, agricultural production, and human disease, underscoring the importance of integrative monitoring systems that combine soil and crop analysis with molecular biomarkers in exposed populations. Strengthening this interdisciplinary approach is essential to design preventive strategies, guide remediation policies, and protect human, animals, and environmental health.
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Spatiotemporal trends in hospitalizations and mortality due to mental disorders in Ecuador 2014–2023. A national epidemiological study
(Springer Science and Business Media LLC, 2025-11-24)
NÚÑEZ VÁSQUEZ, CRISTINA ELIZABETH
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LALANGUI VIVANCO, KARINA DEL ROCÍO
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IZURIETA GUEVARA, MÓNICA GIOCONDA
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Yekaterina Altuna
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Daniel Simancas-Racines
Background: Mental disorders constitute a growing public health concern, accounting for a substantial share of global morbidity and mortality. In Ecuador, despite increasing policy attention, the availability of epidemiological evidence remains limited. This study examines hospitalizations and mortality due to mental disorders (ICD-10 F00–F99) from 2014 to 2023, aiming to generate robust evidence to support informed decision-making and strengthen mental health planning within the national health system. Methods: This study analyzed data from national public-access registries. Descriptive statistics were calculated by sex, age, year, region, and province, and crude rates per 100,000 inhabitants were estimated. Spatiotemporal patterns were examined using k-means clustering and visualized through thematic maps. Results: Between 2014 and 2023, Ecuador recorded 93,680 hospitalizations and 2,281 deaths due to mental disorders, with the highest hospitalization burden observed among individuals aged 20–29 years and a notable increase among females aged 10–19. Substance use disorders predominated in men, whereas mood disorders were more frequent in women. Spatial clustering revealed distinct regional patterns, with the Sierra region, home to approximately 43% of the population, exhibiting the highest hospitalization and mortality rates, whereas the Galápagos province showed extreme temporal variability. Conclusion: Over the past decade, Ecuador has experienced a steady increase in hospitalizations and deaths associated with mental disorders. The results underscore the urgent need to strengthen community-based mental health systems, update national care models, and develop evidence-based promotion and prevention strategies.
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Assessing the impact of a business intelligence program on the employability and well-being of low-income women: a quasi-experimental study protocol
(Frontiers Media SA, 2025-11-13)
Marco Faytong-Haro
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Alonso Quijano-Ruiz
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Daniel Sanchez-Pazmiño
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Patricio Alvarez-Muñoz
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Jose Diaz-Montenegro
Women are underrepresented globally in the field of data analytics, particularly in underdeveloped countries. We present a protocol to assess the impact of the New Dimensions program, a data analytics and business intelligence course sequence that aims to address this gender gap by providing free business intelligence training to disadvantaged women in Ecuador. The program offers both technical (Business Intelligence) and soft skills training, including Excel, Power BI, SQL, GitHub, R, Tableau, statistics, Python, and workshops on empowerment, employability, and public speech. The purpose of this quasi-experimental study is to assess the impact of this training program on employability and other well-being outcomes of the participants. A total of 80 individuals will be part in the study, of which 70 will be selected to participate in the program, 50 will receive both hard and soft skills training, and 20 only soft skills training. Ten individuals will form part of the control group with no intervention. The study design involves a nonrandomized control group composed of rejected applicants. Data will be collected through an online application form and a computer-based exam. The outcome measures are participants' labor market outcomes, income, food security, and economic stratification, among others. This protocol will prospectively evaluate the program's potential effectiveness; findings will inform future, larger randomized studies focused on employability and well-being in underrepresented groups.
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From meal to malfunction: exploring molecular pathways, biomarkers and interventions in postprandial cardiometabolic health
(Frontiers Media SA, 2025-10-29)
Claudia Reytor-González
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Cevallos-fernández Emilia Luciana
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JÁCOME VILLACRÉS, MARÍA BELÉN
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Daniel Simancas-Racines
Cardiometabolic diseases—including type 2 diabetes, cardiovascular disease, and metabolic dysfunction–associated steatotic liver disease—are increasingly driven by near-continuous after-meal exposure to glucose and lipid surges that traditional fasting tests often miss. This review prioritizes human studies from 2020 to 2025 and uses earlier work only as foundational anchors; non-English reports were excluded and preclinical findings are cited solely for mechanistic context. Evidence converges on six processes that amplify risk within hours after eating: impaired insulin signaling, delayed clearance of dietary lipids, mitochondrial and oxidative stress, loss of endothelial nitric oxide, inflammasome-mediated inflammation, and microbiome–hormone interactions. Dynamic, after-meal markers and simple composites such as the triglyceride–glucose index outperform fasting measures for identifying risk and guiding care. Practical strategies to shorten the “damage window” include Mediterranean-style meals with low glycemic index swaps and unsaturated fats, earlier distribution of daily energy and early time-restricted eating, a small pre-meal protein portion, and brief post-meal walking. Fast-acting medicines—glucagon-like peptide 1 and glucose-dependent insulinotropic polypeptide receptor agonists, rapid-acting insulin analogues, sodium–glucose cotransporter 2 inhibitors taken before meals, and proprotein convertase subtilisin/kexin type 9 inhibitors—further blunt peaks, while continuous glucose monitoring with algorithmic feedback enables timing-aware, person-specific adjustments. A tiered workflow—screen, stratify, and personalize—reframes prevention and treatment around after-meal physiology, with particular relevance to settings where resources are limited.
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Obesity and breast cancer: exploring the nexus of chronic inflammation, metabolic dysregulation, and nutritional strategies
(Informa UK Limited, 2025-06-23)
Claudia Reytor-González
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Daniel Simancas-Racines
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Náthaly Mercedes Román-Galeano
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Martín Campuzano-Donoso
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Angelo Michele Carella
The global prevalence of obesity has risen to epidemic proportions, posing significant health challenges across populations and contributing to increased morbidity and mortality from non-communicable diseases. Among its many consequences, obesity is now firmly established as a modifiable risk factor for breast cancer, particularly in postmenopausal women. The association between obesity and breast cancer is driven by complex and interrelated biological mechanisms, including chronic low-grade inflammation, hormonal imbalances, adipokine dysregulation, insulin resistance, and metabolic dysfunction. These factors collectively create a pro-tumorigenic environment that supports cancer initiation, progression, and recurrence. This review explores the multifaceted nexus between obesity and breast cancer, emphasizing the critical role of inflammatory, hormonal, and metabolic pathways in mediating disease risk and outcomes. Additionally, it highlights the emerging contribution of gut microbiome dysbiosis in modulating host immunity and systemic inflammation in the context of obesity. Nutritional strategies—ranging from dietary pattern modification to caloric restriction and time-restricted feeding (TRF)—are examined for their potential to reduce risk, enhance treatment efficacy, and improve survivorship in breast cancer patients.
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Apoyo político y microplanificación como factores de éxito para una campaña de vacunación de seguimiento de alta calidad, Ecuador, 2023
(Pan American Health Organization, 2025-04-09)
Gabriela Aguinaga-Romero
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Cristina Jacome
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Jonathan Márquez
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Jackeline Pinos
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Ania Carmenates
Objective. To describe the results, achievements, and lessons learned through administrative coverage and rapid monitoring of a follow-up vaccination campaign, in the context of political prioritization and micro-planning as determining factors in the different stages of follow-up campaigns, and the application of these good practices to strengthen the National Immunization Program. Method. This is a special descriptive epidemiological report on a high-quality follow-up vaccination campaign in Ecuador. The sources of information used were: population estimates from the 2010 and 2022 censuses carried out by the National Institute of Statistics and Census; calculation of the susceptible cohort for vaccination with the bivalent vaccine (measles and rubella) and with the oral and injectable polio vaccines; definition of vaccination strategies and tactics, and vaccine scheduling by type and age group; and macro- and micro-planning instruments generated at the local level, which involve quantitative variables related to human, material, logistic, and financial resources. Achievement of high-quality criteria and indicators for follow-up vaccination campaigns were also assessed, including effectiveness, homogeneity, timeliness, simultaneity, efficiency, and rapid monitoring. Results. The micro-planning process was fully implemented nationwide in 95% of health facilities (1879) four weeks prior to implementation of the follow-up campaign. High-quality follow-up was conducted over 14 weeks: 3 395 716 children aged 1-12 years were vaccinated and 99% administrative coverage was achieved, with 71% of provinces (17) reaching ≥95% coverage. In the remaining 29% of provinces (7), coverage rates were between 90% and 94%, with a total of 5 556 128 doses of bivalent vaccine and oral or injectable polio vaccine. Based on the quality criteria, the country achieved 95% of the targeted results. Conclusions. Political support and prioritization, together with the implementation of high-quality micro-planning of the follow-up vaccination campaign generated at the local level, enabled the achievement of targets and results at ≥95% coverage. This is an innovative and successful public health experience that has strengthened the National Immunization Program in Ecuador and other countries in the Region of the Americas. Local health teams conducted micro-planning adapted to the local context, using the methodology and instruments to identify areas of responsibility in orderly, systematic intramural and extramural vaccination campaigns.
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Optical characterization of NiO nanoparticle-decorated single-walled carbon nanotubes synthesized via ultrasonic-assisted sol-gel method
(Elsevier BV, 2025-09)
Seyedeh Maryam Banihashemian
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Hesam Kamyab
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Shahabaldin Rezania
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Daniel Simancas-Racines
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Saravanan Rajendran
The decoration of carbon nanotubes with metal oxide nanoparticles has been employed to enhance their intrinsic properties and expand their applicability across various technological fields. This study investigated the functionalization of single-walled carbon nanotubes (SWCNTs) by treating them with a 3:2 mixture of sulfuric acid and nitric acid, which introduces oxygen-containing functional groups to enhance their dispersibility and reactivity. Nickel oxide nanoparticles (NiONPs) were synthesized and integrated onto the functionalized SWCNTs using an ultrasonic-assisted sol-gel technique, allowing uniform distribution. Then, the NiONP/SWCNT composite was evaluated for thermal stability and elemental composition via thermogravimetric analysis (TGA) and energy-dispersive X-ray spectroscopy. Both field emission scanning electron microscopy and high-resolution transmission electron microscopy confirmed the successful decoration of NiONPs (particle size <20 nm, mean value of 7.87 ± 3.02 nm) on the SWCNTs. Fourier-transform infrared spectroscopy revealed characteristic peaks corresponding to NiO at 644 cm−1 as IR-active modes induced by NiO–SWCNT and Raman spectroscopy further verified the chemical bonding between NiONPs and SWCNTs. This shows shifts in the radial breathing mode and G bands of SWCNTs, indicative of strong interfacial chemical interactions. Optical analysis demonstrated that the NiO-SWCNT nanocomposite exhibited a reduced band gap compared to pure NiO nanoparticles but a broader band gap than intermediate-phase SWCNT configurations. In addition, UV–Vis spectroscopy identified a prominent absorption peak within the 600–800 nm wavelength range, aligning with the near-infrared (NIR) spectral region. This enhanced NIR absorption suggests improved light-capturing efficiency, which could significantly benefit applications in photocatalysis and optoelectronics.

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